English Version
OrphanAnesthesia
M. Johnson, G. Stuart

Andersen disease

Andersen disease

Schlüsselwörter Andersen disease (GSD IV) ICD 10: E74.09; Adult polyglucosan body disease, amylopectinosis, Andersen disease, Andersen glycogenosis, brancher deficiency, branching enzyme deficiency, glycogen branching enzyme deficiency, glycogenosis type IV, glycogen storage disease IV, glycogen storage disease type 4, glycogenosis 4, glycogenosis type IV, GSD IV, GSD type IV, GSD4, type IV glycogenosis
Keywords Andersen disease (GSD IV) ICD 10: E74.09; Adult polyglucosan body disease, amylopectinosis, Andersen disease, Andersen glycogenosis, brancher deficiency, branching enzyme deficiency, glycogen branching enzyme deficiency, glycogenosis type IV, glycogen storage disease IV, glycogen storage disease type 4, glycogenosis 4, glycogenosis type IV, GSD IV, GSD type IV, GSD4, type IV glycogenosis
Zusammenfassung Dieser Beitrag enthält keine Zusammenfassung
Summary

Andersen disease (GSD IV) is a rare genetic disorder of glycogen metabolism. It is caused by the deficient activity of the glycogen-branching enzyme, resulting in the accumulation of abnormal glycogen in the liver, muscles, and/or other tissues. The disease is inherited as an autosomal recessive trait. Clinically, the symptoms and findings become evident in the first months of life. Such features typically include failure to thrive and hepatosplenomegaly. In such cases, the course of the disease is typically characterised by progressive cirrhosis and liver failure, leading to potentially life-threatening complications. In addition, several neuromuscular variants of GSD IV have been described that may be evident at birth, in late childhood or in adulthood

Englisch